Disease association ontology term - MONDO:0011969 - ALG8-congenital disorder of glycosylation

Term summary

ID

MONDO:0011969

Name

ALG8-congenital disorder of glycosylation

Ontology or CV name

Disease association

Definition

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

Parents

• excluded_subClassOf obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
• is_a congenital disorder of glycosylation type I
• is_a disorder of protein N-glycosylation

Annotation